Biomedical subjects
Publications and source records attributed to K R Kini.
A paratesticular rhabdomyosarcoma occurred in a child with factor IX deficiency and neurofibromatosis, illustrating the need to consider carefully the various etiologic possibilities of a soft-tissue mass in a child with neurofibromatosis and/or a bleeding disorder.
Neural crest and nonneural crest tumors occur frequently in neurofibromatosis (NF). We report one case of NF and recurrent malignant fibrous histiocytoma, a tumor that is uncommon in childhood, and another case of the concomitant occurrence of NF, hemophilia B, and a paratesticular rhabdomyosarcoma.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
A ring chromosome 6 has been identified by GTG-banding in a male with microcephaly, growth retardation, seizures, epicanthus, hypertelorism, micrognathia, and other congenital anomalies. Cytogenetic studies indicate the instability of the ring chromosome. The most common findings in subjects with ring 6 include: profound to moderate mental retardation, microcephaly, prenatal growth failure, retarded bone age, epicanthal folds, flat nasal bridge, short neck, ears low-set or malformed, microphthalmia, and micrognathia. Linkage studies, including HLA, are consistent with reported maps of chromosome 6.
A 12-year-old boy being examined for vague chest pains was found to be suffering from acid maltase deficiency. Unlike previously reported cases in which vacuolization was most commonly noted in type I fibers, type II fibers were selectively involved in this patient and were atrophic Type I fibers were spared, or occasionally contained one or more small globular structures consisting of large, complex aggregates of lysosomal profiles.
Explore the source record for details and available documents.
Explore the source record for details and available documents.